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Gene Review:

DYT13 - dystonia 13, torsion

Homo sapiens

Valente, E.M. et al., Bentivoglio, A.R. et al.

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Disease relevance of DYT13

DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13--36.32 in an Italian family with cranial-cervical or upper limb onset [1].
We describe the phenotype of DYT13 primary torsion dystonia (PTD) in a family first examined in 1994 [2].

High impact information on DYT13

Linkage analysis and haplotype construction allowed us to identify a novel PTD locus (DYT13) within a 22 cM interval on the short arm of chromosome 1, with a maximum lod score of 3.44 between the disease and marker D1S2667 [1].

References

DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13--36.32 in an Italian family with cranial-cervical or upper limb onset. Valente, E.M., Bentivoglio, A.R., Cassetta, E., Dixon, P.H., Davis, M.B., Ferraris, A., Ialongo, T., Frontali, M., Wood, N.W., Albanese, A. Ann. Neurol. (2001) [Pubmed]
Phenotypic characterization of DYT13 primary torsion dystonia. Bentivoglio, A.R., Ialongo, T., Contarino, M.F., Valente, E.M., Albanese, A. Mov. Disord. (2004) [Pubmed]

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